Genetic Counseling Provides Answers For People Facing Cancer

"I wuna know how it started and I wuna know how it endsThe end mite change my life forever&amp;hellip;" My 6-year-old daughter wrote these words shortly after I was diagnosed with advanced ovarian cancer at age 41. I was also plagued by confusion: how could my lifelong commitment to eating well and exercising regularly have failed to protect me? With no obvious family history to suggest a hereditary component to my cancer, I was desperate to find an answer. I met with Maria Baker, Ph.D., a board certified Genetic Counselor/Medical Geneticist who comes to Mount Nittany Medical Center from Penn State Milton S. Hershey Medical Center.

Genetic counseling provides an assessment of your personal cancer risks and a discussion of genetic testing when appropriate, including risks, benefits and limitations. Counseling helps some people decide that they don't wish to be tested. Meeting with Dr. Baker helped me decide that I wanted to be tested for the known mutations that can lead to ovarian cancer.

Researchers estimate that approximately 5-10% of breast, ovarian and colorectal cancers are inherited. Of the genetic susceptibilities that have been identified, mutations in the genes BRCA1 and BRCA2 present the highest risk for breast and ovarian cancer. You are at increased risk for a BRCA1 or BRCA2 mutation if:

Multiple relatives have had breast cancer, with at least some women diagnosed before the age of 50

Relatives have been diagnosed with more than one primary breast cancer

One or more relative has had ovarian cancer

A relative has had both breast and ovarian cancer

A male relative has had breast cancer, or

You have Ashkenazi Jewish (Eastern/Central European) heritage

Other than a having a grandmother diagnosed at age 90 with breast cancer, I had no compelling family history. It was a bittersweet moment when Dr. Baker told me that I have a BRCA1 gene mutation. Here was the answer I had been searching for; the reason I had developed ovarian cancer at such a young age. But I felt physically ill as my thoughts turned to my children: each child of a parent with such a mutation has a 50% chance of having inherited it. Both males and females can inherit and pass on a BRCA1 or BRCA2 mutation to their children. In addition, I knew that having the mutation would give me a lifetime risk for developing breast cancer of 85%.

Dr. Baker admitted that she was as surprised as I to learn of my BRCA1 mutation. But I quickly took comfort in her words emphasizing the "power of knowledge." Awareness of an elevated genetic risk for cancer allows for lifestyle adjustments to mitigate that risk. I can maintain my health with my commitment to good nutrition and exercise. Special screenings, such as breast MRI can detect cancer at an earlier and more treatable stage. Prophylactic chemotherapy and/or surgery (in essence, treating the cancer before it starts) can reduce the risk, in many cases drastically so.

Unfortunately, I cannot answer my daughter's question of how it ends. None of us can know how it will end. But now my family is equipped with information that enables us to be vigilant and pro-active. If you have any of the above risk factors or you have faced a cancer diagnosis that may have a hereditary component, I urge you to seek the advice of a genetic counselor for the sake of yourself and your family. There is power in knowledge.

Wendy S. Bollinger, RD, LDN is a nutrition consultant residing in State College.

Aileen S. Galley, ACSW, LSW is the administrative director of the Penn State Cancer Institute at Mount Nittany Medical Center. She can be reached at 814.234.6787 or agalley@mountnittany.org.